OVERVIEW: What every practitioner needs to know

Ptosis (or blepharoptosis) refers to drooping of the upper eyelid. It can be congenital or acquired, isolated or syndromic, unilateral or bilateral. Ptosis can cause serious visual problems, such as a superior visual field defect, astigmatism, or severe vision loss from amblyopia. Treatment is surgical repair.

Are you sure your patient has pathologic ptosis? What are the typical findings for this disease?

Drooping of the upper eyelid

Absent or poorly defined lid crease

Chin-up head posture

Brow elevation

Astigmatism

Amblyopia

What other disease/conditions share some of these symptoms?

Congenital ptosis: A poorly functioning levator palpebrae muscle is found in congenital blepharoptosis. This condition can be autosomal dominant or sporadic, unilateral or bilateral. The child may have some or all of the typical findings of the disease. The lid droop can be mild or severe.

Third nerve palsy: Rare in children, a third nerve palsy can be congenital or acquired, through trauma or brain lesion. The ptosis tends to be more severe or complete with a paretic levator palpebrae muscle. Other findings may include a deviation of the eye "down and out" and a dilated, poorly reactive pupil.

Horner syndrome: A triad of ptosis, miosis, and anhidrosis of the face. Heterochromia (affected iris has a lighter color) may also be noted, when congenital. A lesion at any location along the sympathetic pathway can cause Horner syndrome.

Marcus-Gunn jaw winking: The condition is a congenital synkinesis between the external pterygoid muscles and the levator palpebrae. The ptotic lid opens when nursing or with jaw movement towards the contralateral side (contraction of the ipsilateral external pterygoid).

Congenital myasthenic syndrome and myasthenia gravis: These are rare conditions in children. Congenital myasthenic syndrome can be autosomal dominant or recessive, beginning in early life. Genetic abnormalities of either the presynaptic, synaptic, or postsynaptic neuromuscular junction cause weakness of the extraocular muscles and/or extremities. This condition is distinguished from myasthenia gravis, in which acetylcholinesterase antibodies block the transmission of neural impulses at the neuromuscular junction. An autoimmune disease, it is more often found in older adults. Variable, fatigable ptosis, weakness of the orbicularis oculi and strabismus are found. The pupil is never involved, which can help distinguish congenital myasthenic syndrome from third nerve palsies and Horner's syndrome.

Blepharophimosis syndrome: This is an autosomal dominant condition that may be associated with ovarian dysfunction. It consists of a constellation of severe ptosis, telecanthus, epicanthus inversus, and blepharophimosis.

Congenital fibrosis of the extraocular muscles (CFEOM): This rare autosomal dominant condition may result from primary neurogenic dysfunction, which leads to secondary fibrosis of the extraocular muscles. Ptosis as well as motility restriction is noted.

Chronic progressive external ophthalmoplegia (CPEO): This mitochondrially inherited disease produces a myopathy of the extraocular muscles, with "ragged red fibers" noted on pathologic examination. Kearns-Sayre syndrome is a potentially fatal form of CPEO with complete heart block, cerebellar ataxia, and pigmentary retinopathy. Progressive ptosis and ophthalmoplegia are found, with usual onset in young adulthood.

What caused this disease to develop at this time?

Congenital ptosis is typically present from birth and is non-progressive. The etiology may result from a primary neurologic insult, with subsequent muscular atrophy or a primary myogenic abnormality. Pathologic examination shows fatty and fibrous tissue replacing striated muscle fibers. As a result, the more rigid lid both contracts and relaxes poorly.

What laboratory studies should you request to help confirm the diagnosis? How should you interpret the results?

Generally, lab studies are not required to confirm ptosis. Consultation with ophthalmology is recommended.

Topical pharmacologic testing with apraclonidine or cocaine can confirm the diagnosis of Horner syndrome. Urine catecholamine metabolite testing should be considered to rule out neuroblastoma as a cause of Horner syndrome.

Acetylcholinesterase antibodies (binding and blocking) may be helpful to confirm myasthenia gravis, although the antibodies are falsely negative in 50% of ocular myasthenia.

Would imaging studies be helpful? If so, which ones?

Generally, imaging studies are not required to confirm ptosis. Consultation with ophthalmology is recommended.

Neuroimaging is indicated in suspected third nerve palsies.

Patients with acquired Horner syndrome who do not have a history of surgery or trauma that could injure the sympathetic pathway require neuroimaging. MR imaging of the brain, neck, and chest with and without contrast is required and is more sensitive than urine catecholamine testing. Sedation is often required for imaging a child.

If you are able to confirm that the patient has ptosis, what treatment should be initiated?

Referral to ophthalmology is indicated to confirm the cause of the ptosis and to examine for amblyopia. A lid that covers the pupil needs referral and repair early in life to prevent dense vision loss.

Surgery is indicated for ptosis that interferes with vision or results in a significan chin-up posture. A frontalis sling is performed for severe ptosis with poor function of the levator palpebrae muscle. The sling is fashioned from autogenous or cadaveric fascia lata, silicone, Ptose-up (expanded polytetrafluoroethylene), or Supramid. It attaches the lid to the frontalis brow muscle, thereby allowing lid opening and closure by raising the brow. A levator advancement or resection is performed for mild-to-moderate ptosis with some remaining levator function. Surgery may be delayed until the child is several years old.

Ptosis secondary to congenital myasthenic syndrome and myasthenia gravis often responds to systemic anticholinesterase treatment, although residual stable ptosis may be treated surgically.

Ptosis in Horner syndrome is generally mild and thus, usually does not require treatment. Topical adrenergic drops may improve the ptosis temporarily.

Anisometropic astigmatism, induced by the ptotic lid, frequently causes amblyopia (visual deprivation). Glasses are needed to correct the astigmatism. Penalization of the sound eye is accomplished by patching (occlusion therapy).

What are the adverse effects associated with each treatment option?

The most common complication of ptosis surgery is undercorrection. Other complications are dry eye, or exposure keratopathy, secondary to tear evaporation from poor lid closure. The use of artificial tear ointment or drops should be expected for a month or two following surgery. Rarely, persistent severe exposure may require repeat surgery to lower the lid to prevent vision loss.

All patients should be evaluated by the surgeon preoperatively for an intact Bell's phenomenon to ensure the eye elevates for protection against poor lid closure.

Perfect symmetry is often difficult to achieve, particularly with the frontalis sling. The lid will appear "hung up" when the patient looks down or tries to close the eye.

What are the possible outcomes of ptosis?

The visual prognosis depends on the treatment of amblyopia. A timely referral to ophthalmology is necessary to begin treatment. If the lid occludes the pupil, the referral is urgent to prevent dense vision loss. When compliant with a patching and glasses regimen, vision can be excellent.

The risks of ptosis surgery include pain, bruising, infection, scar, and asymmetry. The sling can cause a granuloma in 10% to 20% that may require removal. The need for further surgery should be expected over time, as the lid may gradually fall again. Vision loss during surgery is rare.

What causes this disease and how frequent is it?

Congenital ptosis can be sporadic or familial. An autosomal dominant transmission of congenital ptosis has been mapped to chromosomes 8q21.12 and 1p34.1-p32, as well as an X-linked dominant form on Xq24-q27.1. Both sexes and all races may be affected.

How do these pathogens/genes/exposures cause the disease?

These genes may encode a transcription factor expressed in both muscle and nerve tissue.

How can ptosis be prevented?

Genetic counseling should be offered in patients with a family history of ptosis.

What is the evidence?

There is a lack of randomized prospective clinical studies for ptosis repair in the current literature.

(This retrospective chart review of 56 children with Horner syndrome found 13 [23%] had a neoplasm as the etiology of their disease. Brain, neck and chest MRI as well as urinary catecholamine testing is recommended in a patient with acquired Horner syndrome without a surgical history.)